Canonical Allele Identifier: CA386492933
Gene: PAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840410A>C , CM000674.2:g.102840410A>C GRCh38
NC_000012.11:g.103234188A>C , CM000674.1:g.103234188A>C GRCh37
NC_000012.10:g.101758318A>C NCBI36
NG_008690.1:g.82193T>G
NG_008690.2:g.123001T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1305T>G MANE Select ENSP00000448059.1:p.Asp435Glu
ENST00000307000.7:c.1290T>G ENSP00000303500.2:p.Asp430Glu
ENST00000551114.2:n.967T>G
ENST00000553106.5:c.1305T>G ENSP00000448059.1:p.Asp435Glu
ENST00000635477.1:n.409T>G
ENST00000635528.1:n.820T>G
NM_000277.1:c.1305T>G NP_000268.1:p.Asp435Glu
XM_011538422.1:c.1248T>G XP_011536724.1:p.Asp416Glu
NM_000277.2:c.1305T>G NP_000268.1:p.Asp435Glu
NM_001354304.1:c.1305T>G NP_001341233.1:p.Asp435Glu
NM_000277.3:c.1305T>G MANE Select NP_000268.1:p.Asp435Glu
NM_001354304.2:c.1305T>G NP_001341233.1:p.Asp435Glu